Nevena Zoran Stojadinović

Ms. Nevena Zoran Stojadinović


Research Focus & Metrics

Academic Career Length

2Years (2025-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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4 February 2025 in Diagnostics
Verified
Journal Article
Open access
PDF file
BMBojana Markovic
Bojana Markovic
MJMarina Gazdic Jankovic
Marina Gazdic Jankovic
ZIZoran Igrutinović
Zoran Igrutinović
RMRaša H. Medovic
Raša H. Medovic
NSNevena Zoran Stojadinović
Nevena Zoran Stojadinović
BLBiljana Ljujic
Biljana Ljujic
Background: Monosomy 18p is a chromosomal disorder resulting from the deletion of the short arm of chromosome 18. While a lot of cases result from the partial deletion of 18p, only a few reported cases are caused by the deletion of the whole short arm of chromosome 18 due to unbalanced translocations occurring between chromosomes 13 and 18 (13;18). 18p- monosomy presents with a variety of clinical manifestations, including facial dysmorphism, intellectual disability, and short stature, among others. Case presentation: Here, we report a case of a one-year-old girl with 18p- monosomy resulting from an unbalanced translocation between chromosomes 13 and 18 (45, XX, t(13;18) (q12:p11.2)). Our patient had facial dysmorphism and stunted growth. Additionally, she had hypotonia and required thyroxine supplementation from a young age. To our knowledge, this is the first case of astigmatism in a patient with this deletion and an unbalanced translocation between chromosomes 13 and 18. Conclusions: The present case demonstrates the phenotypic spectrum of a rare variant of monosomy 18 caused by an unbalanced whole-arm translocation between chromosomes 13 and 18. Our study emphasizes the significance of cytogenetic testing to diagnose this disease, which has been described only five times in the literature.